Med13l^{tm1d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Med13l^{tm1d(KOMP)Wtsi}
• Name: mediator complex subunit 13-like; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:8351551
• Gene: Med13l Location: Chr5:118698744-118903503 bp, + strand Genetic Position: Chr5, 59.1 cM
• Alliance: Med13l^{tm1d(KOMP)Wtsi} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:376345
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 118867440 of Chromosome 5 upstream of the critical exon 11 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of exon 11 at position 118868475. Exon 11 is thus flanked by loxP sites. The lacZ sequence and neomycin resistance gene were removed via flp-mediated recombination and the floxed exon 11 was removed via cre-mediated recombination. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:376345)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Med13l Mutation: 118 strains or lines available

References

• Original: J:376345 Leinheiser AK, et al., Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome. Dev Dyn. 2025 Sep 8
• All: 1 reference(s)